Varaico: Literature-Extracted Genetic Variants

JAK1

1,174 papers

RefSeq Summary

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to...

Pfam Domains

FERM_F1aa 36–129UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 147–277UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 284–421UCSCJak1 pleckstrin homology-like domain

SH2_1aa 438–546UCSCSH2 domain

PK_Tyr_Ser-Thraa 583–845UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 875–1149UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 1

HGNC Previous Symbol

JAK1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002227.4

p.V645A

c.1934T>C

Surrounding Variants

3 papers

NM_002227.4

p.V645F

c.1933G>T

1 paper

NM_002227.4

p.V645insFs

c.1934_1935ins7

1 paper

NM_002227.4

p.S646insFs

c.1936_1937insA

5 papers

NM_002227.4

p.S646P

c.1936T>C

1 paper

NM_002227.4

p.R643_V645del3

c.1927_1934del9

4 papers

NM_002227.4

p.Q644H

c.1932G>T

4 papers

NM_002227.4

p.Q644H

c.1932G>C

1 paper

NM_002227.4

p.Q644Q

c.1932G>A

1 paper

NM_002227.4

p.S646fs

c.1936_1937fs

16 papers

NM_002227.4

p.S646F

c.1937C>T

1 paper

NM_002227.4

p.S646Y

c.1937C>A

1 paper

NM_002227.4

p.Q644R

c.1931A>G